Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Height is a heritable and highly heterogeneous trait. Short stature affects 3% of the population and in most cases is genetic in origin. After excluding known causes, 67% of affected individuals remain without diagnosis. To identify novel candidate genes for short stature, we performed exome sequenc...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Hauer, Nadine N., Popp, Bernt, Taher, Leila, Vogl, Carina, Dhandapany, Perundurai S., Büttner, Christian, Uebe, Steffen, Sticht, Heinrich, Ferrazzi, Fulvia, Ekici, Arif B., De Luca, Alessandro, Klinger, Patrizia, Kraus, Cornelia, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Kunstmann, Erdmute, Rauch, Anita, Wieczorek, Dagmar, Jung, Anna-Marie, Rohrer, Tilman R., Zenker, Martin, Doerr, Helmuth-Guenther, Reis, André, Thiel, Christian T.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2019
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777496/
https://ncbi.nlm.nih.gov/pubmed/30809043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0362-0
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